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Article

Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome.

Clinical genetics - 1 Jun 2011

Raskin L, Schwenter F, Freytsis M, Tischkowitz M, Wong N, Chong G, Narod S A, Levine D A, Bogomolniy F, Aronson M, Thibodeau S N, Hunt K S, Rennert G, Gallinger S, Gruber S B, Foulkes W D

Abstract excerpt

Founder mutations are an important cause of Lynch syndrome and facilitate genetic testing in specific ethnic populations. Two putative founder mutations in MSH6 were analyzed in 2685 colorectal cancer (CRC) cases, 337 endometrial cancer (EnCa) cases and 3310 healthy controls of Ashkenazi Jewish (AJ) descent from population-based and hospital-based case–control studies in Israel, Canada and the United States. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21155762
DOI: 10.1111/j.1399-0004.2010.01594.x
PMCID: PMC4541773

Genes

MSH6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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